NHLRC2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Monogenic short stature

  BIALLELIC, autosomal or pseudoautosomal

• Paediatric disorders - additional genes

  BIALLELIC, autosomal or pseudoautosomal

• Rare anaemia

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• fibrosis, neurodegeneration, and cerebral angiomatosis

  0.77

• neurodegenerative disease

  0.50

• pituitary gland disorder

  0.31

• ovarian neoplasm

  0.24

• hereditary disease

  0.19

• idiopathic pulmonary fibrosis

  0.08

• neoplasm

  0.07

• hypertensive disorder

  0.06

• AIDS dementia complex

  0.05

• essential hypertension

  0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)